Chromosomal Translocation
While many undergo fertility treatments because of a medical diagnosis of infertility, others have a different genetic condition or disorders which necessitate IVF to ensure a healthy child.
This submission comes from Rachel Schiffman Secemski.⠀⠀⠀⠀⠀⠀⠀⠀
“My story started 14 years ago when we wanted to have children. We knew there would be struggles due to a chromosomal issue on my husband’s side, but we never thought it would be as challenging as it was.
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My husband is a carrier of a chromosomal translocation of #3 and #7. This is when 2 pieces of chromosomes break off and switch places. If the break is even, then you are a carrier. If they break and switch is not even, it creates a fetus that would not survive birth. We found out when we were engaged, as this runs in families and one of his siblings was having an issue.
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I was young and went through 4 consecutive miscarriages ranging between 8-10 weeks. All heartbeats I saw one day and were gone the next.
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The first loss was the worst. It was my first pregnancy, so I was cautiously excited. I thought that there was no way the chromosomal issue could be as bad as they said. I was young and healthy and it wouldn’t affect us. Boy, we were wrong.
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Later on, when I would hear the OBGYN say the fetus was measuring a week smaller than it should, I knew it meant the next visit the heartbeat would be gone. It was just awful.
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I went through 4 consecutive losses and 4 D&Cs until I realized I couldn’t take much more. I needed something to work. I wanted desperately to be a mom.
The only way around the translocation was IVF with PGD (Preimplantation Genetic Diagnosis). PGD is a procedure used prior to implantation to help identify genetic defects within embryos, This serves to prevent certain genetic diseases or disorders from being passed on to the child.
We went through a cycle, and were overjoyed that we got 1 great looking embryo and 2 “good” ones. There were none that could be saved to freeze for another time. I didn’t care because it finally gave me hope.
Thang gd that one become my now beautiful 12 year old bat mitzvah, who is the most incredible girl. The 2 years after she was born were just so happy and carefree. No stress and doctor visits, just spent our days enjoying our miracle girl.
After the 2 years we realized we did not want her to be alone, but we knew the challenges we would face. Before going back to IVF I wanted to try naturally again, I didn’t know how I would manage all those RE visits again with a toddler.
2 more years passed and 4 more miscarriages, 4 more D&Cs to recover from.
We realized what we needed to do.
We went through one cycle of IVF with PGD and got only 1 chromosomaly normal embryo. Sadly, it didn’t take. We went through two more cycles to gather a big enough sample to test from, to increase our chances of more “normal” embryos.
We had 2 normal ones this round and a second miracle happened when I found out I was pregnant with my now 7 year old son. He is the sweetest and silliest boy. He has challenges, but we wouldn’t change a thing.
After a year with him I realized that being a mother was my greatest accomplishment in life, it was something I felt I was good at.
But I felt selfish wanting a third child. My daughter who was 6 at the time would say, “Mommy, please-I want a sister.” There was a 5 yeah age gap between her and her brother, and although they love each other, she had always wanted a sister.
We got pregnant again naturally and somehow the pregnancy kept going. It was the first natural pregnancy out of 8 that went past 10 weeks. I didn’t want to believe that it would be ok, because it never had been. I was in MAJOR denial that it would be ok.
I had made it to 12 weeks when my OBGYN insisted I have a CVS test. It was the best thing to do in case it did have the translocation and had just kept growing for an unknown reason.
I was terrified.
I had a bad feeling about it, but I knew that it needed to be done.
A week later I dound out the baby was a boy that was chromosomaly normal. I couldn’t believe it!!!
We were in total shock that it would be ok.
I was so very wrong.
I made it to 14 weeks and went in for a scan. The sonographer started, then excused herself to a moment to get the doctor. They told me the heartbeat was gone. The fetus had died. It was a risk associated with the CVS and I was the 1% it happened to.
I’ll never forget the fetus was turned towards me in the scan. I saw the eye sockets like it was looking to me.
I not only cried in that office, but screamed.
They let us out a back way and we raced to my OBGYN for a D&C. I wanted it done ASAP.
As horrible as this was I was not recovering well like the other ones. I had terrible pain and bleeding. I went into the OBGYN two days later and they said I would need another d&C the next day.
That day was erev Yom Kippur.
A year passed and I wanted to try again. I wasn't going to let the stop me from creating the family I had wanted.
I had four more miscarriages at around 8 weeks, and four more D&Cs for a total of 12. At that point, I had more than enough and was ready to give up. There was no way I would have more children...
Vacancy number 15 was definitely not expected. I was 33 and we're sure that it would be my wonderful family of four, and I was more than thrilled with that.
But Hashem (G-d) has other plans for us sometimes. Sometimes things happen that we question, we are tested, and I tried to continue to believe that we are not giving more than we can handle.
This time though, I was told I was expecting twins. I thought, "Ok, it's going to be the same as always. The only difference is that this time I will miscarry two instead of one."
The pregnancy continued and I waited for the inevitable.
I made it to 12 weeks and the OBGYN insisted I once again have the dreaded CVS test done--not just to make sure they were chromosomally normal, but I was older now and it was a twin pregnancy.
The test was even risky with twins. I was completely terrified. But it had to be done. The effects of dreaded translocation would have been either stillbirth or death.
I did it, and there were complication.
I was heavily bleeding right after the test was done. I was convinced I lost them. I was told I developed a subchorionic hematoma from the test. That's what caused the bleeding.
I had to be so careful and on bedrest.
It took up to 2 weeks to get the results of the CVS test. We got the call and I was shaking. Ready to scream when they told me one or both would not be viable. But they didn't.
They told me both were completely normal! And it was a boy and girl. They had told me the odds of them both being ok were about 3%.
It was a true miracle. It restored my faith. It made me whole again.
The babies were born early at 32 weeks. They spent 5 weeks in the NICU and I was there 3x a day. I hated leaving my miracles at home and my miracles at the hospital. Their first year was challenging but thang gd they are now happy and healthy 3 1/2 year olds.
2 healthy babies.
Without intervention.
After 12 miscarriages.
Multiple rounds of IVF.
Countless shots, procedures and visits.
Countless nights where we both cried over what we lost and nights we have cried over what we have.
I'm sharing my story to help encourage you not to give up.
I felt that way so many times. I felt the lowest I ever had. I felt it would never be ok.
All those years of struggle.
But I look at those four beautiful miracles and I thank gd every single day."